Abstract
This brief communication by Lê Đức Hinh (member of the World Federation of Neurology, former President of the Vietnam Neurological Society) highlights that, according to recent World Federation of Neurology data, over 50% of rare disease patients present with conditions related to neurology. These disorders affect patients' health, daily functional capacity, and often reduce their survival time. In children, notable rare neurological diseases include Huntington's disease, hereditary spastic paraplegia, ataxias, neuromuscular diseases, mitochondrial diseases, cerebral small vessel disease of monogenic origin, leukodystrophies, lysosomal storage diseases, and amino acid disorders. In adults, similar conditions occur alongside familial dementia and other rare movement disorders. Diagnostic workup combines clinical examination with routine blood/urine testing, biochemical assays for lysosomal, lipid storage, and amino acid disorders, plus neuroimaging (CT, MRI, PET, ultrasound), electrophysiological studies (EEG, EMG, evoked potentials), genetic molecular testing, and tissue biopsies (muscle, skin, brain). Treatment increasingly relies on gene therapy and enzyme replacement therapy, with approved treatments now available for amino acid metabolism disorders, Gaucher disease, Lennox-Gastaut syndrome, myoclonic epilepsy, Fabry disease, spinal muscular atrophy, Pompe disease, Duchenne muscular dystrophy, Lambert-Eaton syndrome, and Niemann-Pick disease. The author notes that Vietnam retains diagnostic capacity for some of these conditions, mainly at hospitals with pediatric and neurology specialties, but few specialists focus on treating these diseases, and many patients instead seek traditional medicine. The author calls for expanded educational materials and specialist training to improve care quality and raise Vietnamese medicine's international standing.
